Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

Gregory R. Handrigan; David Chitayat; Anath C. Lionel; Maury Pinsk; Andrea K. Vaags; Christian R. Marshall; Sarah Dyack; Luis Escobar; Bridget A. Fernandez; Joseph C. Stegman; Jill A. Rosenfeld; Lisa G. Shaffer; McKinsey L. Goodenberger; Jennelle C. Hodge; Jason E. Cain; Riyana Babul‐Hirji; Dimitri J. Stavropoulos; Verna Yiu; Stephen W. Scherer; Norman D. Rosenblum

doi:10.1136/jmedgenet-2012-101288

Abstract

Our data highlight 16q24.2 as a region of interest for ASD, ID and congenital renal malformations. These conditions are associated, albeit without complete penetrance, with deletions affecting C16orf95, ZCCHC14, MAP1LC3B and FBXO31. The function of each gene in development and disease warrants further investigation.

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Handrigan et al. (2013) studied this question.

synapsesocial.com/papers/69dcc2e998c6111533e5397f https://doi.org/10.1136/jmedgenet-2012-101288

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Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

Abstract

Discussion

Cite This Study

Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

Abstract

Discussion

Cite This Study

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